COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
Disease: Blue sclera ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518930
rs1057518930
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0542514
Disease:
Blue sclera 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555572315
rs1555572315
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0542514
Disease:
Blue sclera 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1567757138
rs1567757138
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0542514
Disease:
Blue sclera 		C 0.700 CausalMutation CLINVAR
dbSNP: rs66527965
rs66527965
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0542514
Disease:
Blue sclera 		T 0.700 CausalMutation CLINVAR